Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11105468
rs11105468
LOC105369890
1 1.000 0.080 12 89935056 intron variant T/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs114444506
rs114444506
ANO3 ; LOC105376598 ; ANO3-AS1
1 1.000 0.080 11 26325284 intron variant T/C snv 1.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs1318653
rs1318653
MIR29B2CHG
1 1.000 0.080 1 207841577 intron variant T/C snv 0.19 0.710 1.000 1 2014 2014
dbSNP: rs13306038
rs13306038
PTGS2
1 1.000 0.080 1 186671995 3 prime UTR variant A/T snv 4.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs146572471
rs146572471
SLC30A3
1 1.000 0.080 2 27256512 missense variant G/A;C snv 5.8E-04; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs201931599
rs201931599
PTGS2
1 1.000 0.080 1 186671994 3 prime UTR variant T/A snv 1.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs2724384
rs2724384
CD46
1 1.000 0.080 1 207756858 intron variant G/A snv 0.80 0.700 1.000 1 2014 2014
dbSNP: rs273259
rs273259
IFI44L
1 1.000 0.080 1 78628133 missense variant A/G snv 0.38 0.36 0.710 1.000 1 2014 2014
dbSNP: rs3769955
rs3769955
SCN2A
1 1.000 0.080 2 165378122 intron variant C/T snv 0.42 0.700 1.000 1 2014 2014
dbSNP: rs4648306
rs4648306
PTGS2
1 1.000 0.080 1 186671572 downstream gene variant C/T snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs556893466
rs556893466
SCN1A ; SCN1A-AS1 ; LOC102724058
1 1.000 0.080 2 165991477 missense variant C/A;T snv 2.0E-05; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1553553485
rs1553553485
SCN1A ; SCN1A-AS1
1 1.000 0.080 2 166058626 stop gained G/C snv 0.700 0
dbSNP: rs1398830127
rs1398830127
GABBR1
2 0.925 0.080 6 29610981 missense variant C/T snv 4.1E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs16850331
rs16850331
SCN2A
2 0.925 0.080 2 165292743 intron variant C/T snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs1805057
rs1805057
GABBR1
2 0.925 0.080 6 29613344 missense variant C/T snv 1.1E-03 1.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs210987
rs210987
GABRG2
2 0.925 0.080 5 162108749 intron variant C/T snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs211014
rs211014
GABRG2
2 0.925 0.080 5 162149412 3 prime UTR variant C/A snv 0.30 0.010 1.000 1 2007 2007
dbSNP: rs3943809
rs3943809
SCN2A
2 0.925 0.080 2 165344371 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs7587026
rs7587026
SCN1A ; SCN1A-AS1
2 0.925 0.080 2 166122240 intron variant C/A snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs763256222
rs763256222
SCN9A ; SCN1A-AS1
2 0.925 0.080 2 166288466 missense variant G/A snv 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs770771659
rs770771659
SCN9A ; SCN1A-AS1
2 0.925 0.080 2 166286614 missense variant C/T snv 9.4E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs886039529
rs886039529
SCN1A ; SCN1A-AS1 ; LOC102724058
2 1.000 0.080 2 166036051 frameshift variant TT/- delins 0.700 0
dbSNP: rs121918631
rs121918631
SCN1A ; SCN1A-AS1
3 0.882 0.080 2 166056450 stop gained A/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs121918782
rs121918782
SCN1A ; SCN1A-AS1
3 0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs142740233
rs142740233
SLC12A5
3 0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06 0.010 1.000 1 2014 2014